ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825331866
Gene: GCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1463233
ClinVar RCV Id:
RCV001960944
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019195.1:p.Ser81Pro
CA389793826
NM_001024024.2:c.241T>C